Canonical Allele Identifier: CA2793552074
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108223034C>A , CM000673.2:g.108223034C>A GRCh38
NC_000011.9:g.108093761C>A , CM000673.1:g.108093761C>A GRCh37
NC_000011.8:g.107598971C>A NCBI36
NG_009830.1:g.5203C>A , LRG_135:g.5203C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-271C>A ENSP00000388058.2:n.-271C>A
ENST00000683914.2:c.-183C>A ENSP00000507649.1:n.-183C>A
ENST00000278616.8:c.-183C>A ENSP00000278616.4:n.-183C>A
ENST00000527805.5:c.-183C>A ENSP00000435747.1:n.-183C>A
NM_000051.3:c.-183C>A , LRG_135t1:c.-183C>A NP_000042.3:n.-183C>A
XM_011542843.1:c.-183C>A XP_011541145.1:n.-183C>A
XM_011542846.1:c.-183C>A XP_011541148.1:n.-183C>A
NM_001351834.1:c.-271C>A NP_001338763.1:n.-271C>A
NM_001351835.1:c.-183C>A NP_001338764.1:n.-183C>A
XM_011542842.3:c.-183C>A XP_011541144.1:n.-183C>A
XM_011542843.2:c.-183C>A XP_011541145.1:n.-183C>A
XM_011542844.3:c.-1205C>A XP_011541146.1:n.-1205C>A
XM_017017791.1:c.-183C>A XP_016873280.1:n.-183C>A
XM_017017792.2:c.-183C>A XP_016873281.1:n.-183C>A
XR_002957150.1:n.551C>A